A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16295161



Internal ID20504379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50476103..50476103hg38UCSC Ensembl
chr17:48553464..48553464hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761801
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16295161
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer